SNPs detected in patients with HD and the frequency of those SNPs in unselected neonates
Patient . | Nucleotide . | Exon . | Amino acid change . | Allele frequency in neonates, %* . |
|---|---|---|---|---|
| HD1 | 4365T>A | 31 | S1455R | 1 |
| HD2 | 4949A>G | 35 | N1650S | 0 |
| HD3 | 4949A>G | 35 | N1650S | 0 |
| HD4 | 4138C>T | 30 | H1380Y | 3 |
| HD5 | 2127T>C | 16 | I709I | ND |
Patient . | Nucleotide . | Exon . | Amino acid change . | Allele frequency in neonates, %* . |
|---|---|---|---|---|
| HD1 | 4365T>A | 31 | S1455R | 1 |
| HD2 | 4949A>G | 35 | N1650S | 0 |
| HD3 | 4949A>G | 35 | N1650S | 0 |
| HD4 | 4138C>T | 30 | H1380Y | 3 |
| HD5 | 2127T>C | 16 | I709I | ND |
ND indicates not determined.
Archived stocks of 100 samples of DNA from neonatal cord blood.